1 – 10 of 18
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2017
-
Mark
Non-motor symptoms and quality of life in dopa-responsive dystonia patients
(
- Contribution to journal › Article
- 2007
-
Mark
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
(
- Contribution to journal › Article
- 2005
-
Mark
Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation
(
- Contribution to journal › Article
- 2002
-
Mark
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
(
- Contribution to journal › Article
-
Mark
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids
(
- Contribution to journal › Article
- 2001
-
Mark
Isolated glycerol kinase deficiency and fanconi anemia [1]
(
- Contribution to journal › Letter
-
Mark
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
(
- Contribution to journal › Article
- 2000
-
Mark
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Article
-
Mark
Hyperketonaemia in glycerol kinase deficiency
(
- Contribution to journal › Article
-
Mark
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
(
- Contribution to journal › Article